Canonical Allele Identifier: PA2825058952
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1780Arg
CA392346242
NM_000138.5:c.5338G>A
CA392346247
NM_000138.5:c.5338G>C